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All SNPs are referred using their reference sequence number (rs#).
Mutations were scored relative to the Reconstructed Sapiens Reference Sequence (RSRS)31 and the Revised Cambridge Reference Sequence (rCRS)85,86.
From the chromosome reports data, only reference sequence entries were used.
Additionally, they were mapped to the human GRCh37-lite reference sequence using STAR.
Sequences were aligned with Muscle v3.8.3117 to the revised Cambridge reference sequence, rCRS18.
A preliminary pseudo-reference was created by filling gaps between nonoverlapping contigs from the reference sequence.
STING ORF (NCBI Reference Sequence: NM_028261.1) was pCMV-6-AC-GFP.
DNA-sequence information was aligned to the unmasked mouse genome reference sequence mm9 by bowtie aligner.
Note that the human reference sequence implies phenylalanine residue instead of the evolutionary conserved leucine.
The coding exons were sequenced in multiple affected family members and compared to the reference sequence.
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